Associated Papers
Monogenic disorders of immunity: Common variants are not so rare.
Béziat V et al.
Cell Genomics, 2026
Utilization of the All of Us Research Program in a study of genetics in Yao syndrome.
Wu S et al.
The Journal of Allergy and Clinical Immunology, 2025
Multimorbidity Through the Lens of the Eye: Pathogenic Variants for Multiple Systemic Disorders Found in an Autosomal Dominant Congenital Cataract Cohort.
Berry V et al.
Genes, 2025
The known genetic variants of BRCA1, BRCA2 and NOD2 in pancreatitis and pancreatic cancer risk assessment.
Matykiewicz J et al.
Scientific Reports, 2025
Clinical characterization of NOD2 variants in patients with common variable immunodeficiency.
Lee ASE et al.
Clinical Immunology (orlando, Fla.), 2025
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Low-Penetrance Susceptibility Variants in Colorectal Cancer-Current Outlook in the Field.
Szuman M et al.
International Journal of Molecular Sciences, 2024
Hidradenitis Suppurativa-Related Autoinflammatory Syndromes: An Updated Review on the Clinics, Genetics, and Treatment of Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PASH), Pyogenic Arthritis, Pyoderma gangrenosum, Acne and Suppurative Hidradenitis (PAPASH), Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis (SAPHO), and Rarer Forms.
Maronese CA et al.
Dermatologic Clinics, 2024
Identifying functional dysregulation of NOD2 variant Q902K in patients with Yao syndrome.
Zhang J et al.
Arthritis Research & Therapy, 2024
Clinical phenotype, NOD2 genotypes, and treatment observations in Yao syndrome: a retrospective case series.
Williamson KA et al.
Frontiers in Immunology, 2024
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors.
Dashti M et al.
Frontiers in Cellular and Infection Microbiology, 2024
Prediction of Crohn's Disease Stricturing Phenotype Using a NOD2-derived Genomic Biomarker.
Ashton JJ et al.
Inflammatory Bowel Diseases, 2023
Incomplete penetrance of NOD2 C483W mutation underlining Blau syndrome.
Chang SY et al.
Pediatric Rheumatology Online Journal, 2022
Genetic epidemiology of autoinflammatory disease variants in Indian population from 1029 whole genomes.
Jain A et al.
Journal, Genetic Engineering & Biotechnology, 2021
Long-Term Follow-Up, Association between CARD15/NOD2 Polymorphisms, and Clinical Disease Behavior in Crohn's Disease Surgical Patients.
Giudici F et al.
Mediators of Inflammation, 2021
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study.
Rojas-Restrepo J et al.
Frontiers in Immunology, 2021
NOD2 and TLR2 Signal via TBK1 and PI31 to Direct Cross-Presentation and CD8 T Cell Responses.
Corridoni D et al.
Frontiers in Immunology, 2019
The Role of Rare Coding Variants in Parkinson's Disease GWAS Loci.
Germer EL et al.
Frontiers in Neurology, 2019
Targeted Gene Sequencing in Children with Crohn's Disease and Their Parents: Implications for Missing Heritability.
Chen JS et al.
G3 (bethesda, Md.), 2018
Functional polymorphisms of innate immunity receptors are not risk factors for the non-SBP type bacterial infections in cirrhosis.
Dinya T et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2018
Novel NOD2 Mutation in Early-Onset Inflammatory Bowel Phenotype.
Girardelli M et al.
Inflammatory Bowel Diseases, 2018
G908R NOD2 variant in a family with sarcoidosis.
Besnard V et al.
Respiratory Research, 2018
Genetic profile of patients with early onset inflammatory bowel disease.
Girardelli M et al.
Gene, 2018
Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.
Burillo-Sanz S et al.
Scientific Reports, 2017
Altered pattern of tumor necrosis factor-alpha production in peripheral blood monocytes from Crohn's disease.
Loganes C et al.
World Journal of Gastroenterology, 2016
NOD2 genetic variants and sarcoidosis-associated uveitis.
Davoudi S et al.
American Journal of Ophthalmology Case Reports, 2016
Whole-exome sequencing of Ethiopian patients with ichthyosis vulgaris and atopic dermatitis.
Taylan F et al.
The Journal of Allergy and Clinical Immunology, 2015
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.
Parkhouse R et al.
Frontiers in Immunology, 2015
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease.
Caso F et al.
Rmd Open, 2015
Comparative Genomic and Sequence Analysis Provides Insight into the Molecular Functionality of NOD1 and NOD2.
Boyle JP et al.
Frontiers in Immunology, 2013
Co-inheritance of variants/mutations in Malaysian patients with Crohn's disease.
Chua KH et al.
Genetics and Molecular Research : Gmr, 2012
The nucleotide synthesis enzyme CAD inhibits NOD2 antibacterial function in human intestinal epithelial cells.
Richmond AL et al.
Gastroenterology, 2012
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Rivas MA et al.
Nature Genetics, 2011
ATG16L1 and NOD2 interact in an autophagy-dependent antibacterial pathway implicated in Crohn's disease pathogenesis.
Homer CR et al.
Gastroenterology, 2010
Synthetic associations in the context of genome-wide association scan signals.
Orozco G et al.
Human Molecular Genetics, 2010
Direct bacterial killing in vitro by recombinant Nod2 is compromised by Crohn's disease-associated mutations.
Perez LH et al.
Plos One, 2010
Association of chronic non-bacterial osteomyelitis with Crohn's disease but not with CARD15 gene variants.
Morbach H et al.
Rheumatology International, 2010
Phenotypic and genotypic characteristics of inflammatory bowel disease in French Canadians: comparison with a large North American repository.
Bhat M et al.
The American Journal of Gastroenterology, 2009
Muramyldipeptide modulates CXCL-8 release of BEAS-2B cells via NOD2.
Farkas L et al.
Scandinavian Journal of Immunology, 2008
Genome-wide association studies: a new window into immune-mediated diseases.
Xavier RJ et al.
Nature Reviews. Immunology, 2008
Maternal TLR4 and NOD2 gene variants, pro-inflammatory phenotype and susceptibility to early-onset preeclampsia and HELLP syndrome.
van Rijn BB et al.
Plos One, 2008
Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo.
Lappalainen M et al.
Inflammatory Bowel Diseases, 2008
Functional characterization of two novel 5' untranslated exons reveals a complex regulation of NOD2 protein expression.
Rosenstiel P et al.
Bmc Genomics, 2007
CARD15 genotype-phenotype relationships in a small inflammatory bowel disease population with severe disease affection status.
Crawford NP et al.
Digestive Diseases and Sciences, 2007
Polymorphisms in NFKBIA and ICAM-1 genes in New Zealand Caucasian Crohn's disease patients.
Hong J et al.
Journal of Gastroenterology and Hepatology, 2007
Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.
King K et al.
Genomics, 2007
Anti-flagellin (CBir1) phenotypic and genetic Crohn's disease associations.
Papadakis KA et al.
Inflammatory Bowel Diseases, 2007